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Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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METHODOLOGY
This document provides the list of Orphanet expert reviewers having contributed to the update and quality control of scientific information contained in the Orphanet database of Rare Diseases in 2020. Experts were identified through their publications, and their activity related to the given disease/group of diseases (research projects, clinical trials, expert centres and dedicated networks): more information on the expert selection procedure will be available soon on www.orpha.net. Once identified, experts receive an invitation to examine, validate, correct or complete scientific information related to a given disease and produced based on peer-reviewed publications.Experts are solicited for their input on one, or a number, of the following:
- Nomenclature: preferred term and synonyms
- Related genes and the type of relationship between the gene and the diseases, namely: genes are annotated as causative, modifiers (both from germline or somatic mutations), major susceptibility factors or playing a role in the phenotype (for chromosomal anomalies). When the causative mutations are of germline origin, the functional consequences of the mutations could be documented as a loss or a gain of protein function
- Epidemiological data: point prevalence, annual incidence, prevalence at birth, lifetime prevalence, number of cases and families reported in the literature.
- Natural history data: age of onset, age of death, mode of inheritance
- An abstract structured in up to 10 sections : o Definition of the disease o Epidemiology o Clinical description o Aetiology o Diagnostic methods
o Differential diagnosis
o Genetic counseling (if relevant) o Antenatal diagnosis (if relevant) o Management and treatment o Prognosis
- Disability facts related to rare diseases. In some cases, the experts are contacted to answer a specific question (nomenclature, genetics, classifications, or epidemiological data) in order to update the Orphanet content, or to carry out quality control of the data. Please note that the experts contacted to answer this type of question are not cited on the disease page on the Orphanet website: the expert cited on the disease page is the one having contributed to the text concerning the disease.
Data presentation Experts are listed by alphabetical order of their name and with the expertised disease name and ORPHA code of the disease/ group of diseases, and their affiliation to a European Reference Network (ERN) if they have contributed on behalf of an ERN.
Expert networks having contributed to the update of the aforementioned data are described in a second list.
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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List of expert reviewers for Orphanet in 2020 Expert ERN
Affiliation Disease name ORPHAcode
Pr ABADIE Véronique Isolated Pierre Robin syndrome ORPHA:718
Dr ACCOGLI Andrea ITHACA THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
ORPHA:363444
Pr AMAR Laurence Pheochromocytoma-paraganglioma ORPHA:573163
Non-functioning paraganglioma ORPHA:94080
Sporadic pheochromocytoma/secreting paraganglioma
ORPHA:276621
OBSOLETE: Catecholamine-producing tumor ORPHA:717
Pheochromocytoma-paraganglioma ORPHA:573163
Pr AMOS Christopher Peutz-Jeghers syndrome ORPHA:2869
Dr ANDRIEU Jean-Bernard Juvenile neuronal ceroid lipofuscinosis ORPHA:79264
Dr ARNAUD Eric J. Pfeiffer syndrome type 1 ORPHA:93258
Dr ARNOUX Jean-Baptiste Maple syrup urine disease ORPHA:511
Pr AROCK Michel Aggressive systemic mastocytosis ORPHA:98850
Mast cell leukemia ORPHA:98851
Dr ASCH Sarah Linear nevus sebaceus syndrome ORPHA:2612
Dr AYUSO Carmen X-linked retinoschisis ORPHA:792
Dr BACROT Severine Perinatal lethal hypophosphatasia ORPHA:247623
Prenatal benign hypophosphatasia ORPHA:247638
Odontohypophosphatasia ORPHA:247685
Infantile hypophosphatasia ORPHA:247651
Childhood-onset hypophosphatasia ORPHA:247667
Adult hypophosphatasia ORPHA:247676
Hypophosphatasia ORPHA:436
Pr BADENS Catherine Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ORPHA:98791
Dr BAGOU Gilles Behçet disease ORPHA:117
Langerhans cell histiocytosis ORPHA:389
Hypophosphatasia ORPHA:436
Maple syrup urine disease ORPHA:511
Rett syndrome ORPHA:778
Sarcoidosis ORPHA:797
Susac syndrome ORPHA:838
Common variable immunodeficiency ORPHA:1572
Congenital diaphragmatic hernia ORPHA:2140
Lennox-Gastaut syndrome ORPHA:2382
West syndrome ORPHA:3451
Gaucher disease type 3 ORPHA:77261
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Expert ERN Affiliation
Disease name ORPHAcode
Mastocytosis ORPHA:98292
Duchenne muscular dystrophy ORPHA:98896
Pulmonary arterial hypertension ORPHA:182090
Pr BAHI-BUISSON Nadia Rett syndrome ORPHA:778
Dr BALASUBRAMANIAN Meena
Witteveen-Kolk syndrome ORPHA:500163
Dr BANDEIRA Anabela 3-hydroxy-3-methylglutaric aciduria ORPHA:20
Dr BARATEAU Lucie Narcolepsy type 2 ORPHA:83465
Narcolepsy type 1 ORPHA:2073
Idiopathic hypersomnia ORPHA:33208
Dr BARISIC Ingeborg Otomandibular syndrome ORPHA:141136
Goldenhar syndrome ORPHA:374
Mr BARRY Brenda Duane retraction syndrome ORPHA:233
Dr BATTAGLIA Agatino Inverted duplicated chromosome 15 syndrome ORPHA:3306
Dr BAUJAT Geneviève Hypophosphatasia ORPHA:436
Pr BAUMGARTNER Matthias 3-methylcrotonyl-CoA carboxylase deficiency ORPHA:6
Dr BAYART Daniel Juvenile neuronal ceroid lipofuscinosis ORPHA:79264
Dr BEAUDOIN Sylvie Omphalocele ORPHA:660
Gastroschisis ORPHA:2368
Pr BECKERS Albert Prolactinoma ORPHA:2965
Pituitary gigantism ORPHA:99725
Pr BEDANE Christophe Mucous membrane pemphigoid ORPHA:46486
Pemphigus vulgaris ORPHA:704
Dr BEDESCHI Maria Francesca ITHACA Fraser syndrome ORPHA:2052
Pr BEKRI Soumeya X-linked sideroblastic anemia and spinocerebellar ataxia
ORPHA:2802
Dr BELMATOUG Nadia Gaucher disease type 3 ORPHA:77261
Pr BENACHI Alexandra Congenital diaphragmatic hernia ORPHA:2140
Dr BENLIAN Pascale Tangier disease ORPHA:31150
Pr BERARDELLI Alfredo Blepharospasm-oromandibular dystonia syndrome
ORPHA:93964
Pr BERGER Marc G. Gaucher disease type 3 ORPHA:77261
Pr BERTINI Enrico X-linked centronuclear myopathy ORPHA:596
Joubert syndrome ORPHA:475
Centronuclear myopathy ORPHA:595
Autosomal recessive centronuclear myopathy ORPHA:169186
Autosomal dominant centronuclear myopathy ORPHA:169189
Pr BETZ Regina Woolly hair ORPHA:170
Dr BIESECKER Leslie Greig cephalopolysyndactyly syndrome ORPHA:380
Dr BLANCHET Catherine Usher syndrome type 3 ORPHA:231183
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Expert ERN Affiliation
Disease name ORPHAcode
Usher syndrome type 2 ORPHA:231178
Usher syndrome type 1 ORPHA:231169
Usher syndrome ORPHA:886
Pr BLAU Nenad Maternal phenylketonuria ORPHA:2209
Phenylketonuria ORPHA:716
Dr BLESSING Matthew Saethre-Chotzen syndrome ORPHA:794
Pr BLOCH-ZUPAN Agnès Hypophosphatasia ORPHA:436
Pr BLUME-PEYTAVI Ulrike Woolly hair ORPHA:170
Pr BOCKENHAUER Detlef ERKNet Gitelman syndrome ORPHA:358
Primary Fanconi renotubular syndrome ORPHA:3337
Liddle syndrome ORPHA:526
Nephrogenic diabetes insipidus ORPHA:223
Tubulointerstitial nephritis and uveitis syndrome ORPHA:91500
Pr BODEMER Christine OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes
ORPHA:35061
Dr BOELMA Wilma Familial exudative vitreoretinopathy ORPHA:891
Pr BOON Laurence Glomuvenous malformation ORPHA:83454
Dr BOONSTRA Nienke Familial exudative vitreoretinopathy ORPHA:891
Dr BOSCH A.M. [Annet] Classic phenylketonuria ORPHA:79254
Mild hyperphenylalaninemia ORPHA:79651
Riboflavin transporter deficiency ORPHA:97229
Pr BOUILLET Laurence Renin-angiotensin-aldosterone system-blocker-induced angioedema
ORPHA:100057
Non-histaminic angioedema ORPHA:658
Hereditary angioedema type 1 ORPHA:100050
Hereditary angioedema type 2 ORPHA:100051
Acquired angioedema type 1 ORPHA:100056
Dr BRAIS Bernard Oculopharyngeal muscular dystrophy ORPHA:270
Dr BRASSIER Anaïs Gaucher disease type 3 ORPHA:77261
Dr BRONCHARD Régis Duchenne muscular dystrophy ORPHA:98896
Pr BRORSON Håkan Adiposis dolorosa ORPHA:36397
Pr BRUE Thierry Septo-optic dysplasia spectrum ORPHA:3157
Pr BSCHLEIPFER Thomas eUROGEN Interstitial cystitis ORPHA:37202
Dr BUFFET Alexandre Pheochromocytoma-paraganglioma ORPHA:573163
Dr BU'LOCK Frances Eisenmenger syndrome ORPHA:97214
Dr BURNICHON Nelly Pheochromocytoma-paraganglioma ORPHA:573163
Dr BURRAGE Lindsay Spondyloepiphyseal dysplasia with metatarsal shortening
ORPHA:137678
Pr BURRELL James Corticobasal syndrome ORPHA:454887
Dr BURTON Barbara Lysosomal acid lipase deficiency ORPHA:275761
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Expert ERN Affiliation
Disease name ORPHAcode
Wolman disease ORPHA:75233
Dr BUSA Tiffany ITHACA 22q11.2 deletion syndrome ORPHA:567
22q11.2 duplication syndrome ORPHA:1727
Pr CAGLAYAN Ahmet Knobloch syndrome ORPHA:1571
Pr CALENDER Alain Sarcoidosis ORPHA:797
Pr CALLEWAERT Bert ERN-Skin Menkes disease ORPHA:565
Occipital horn syndrome ORPHA:198
Pr CALVAS Patrick Norrie disease ORPHA:649
Dr CAMPEAU Philippe Dysosteosclerosis ORPHA:1782
Autosomal dominant deafness-onychodystrophy syndrome
ORPHA:79499
Dr CAPONE Valentina ERKNet Senior-Loken syndrome ORPHA:3156
Dr CAPRA Valeria ITHACA Freeman-Sheldon syndrome ORPHA:2053
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
ORPHA:363444
Dr CARAFFI Giuseppe Stefano ITHACA Mowat-Wilson syndrome ORPHA:2152
Alazami syndrome ORPHA:319671
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:536467
Dr CARBONE Marco Primary biliary cholangitis ORPHA:186
Dr CASTANHOLE-NUNES Márcia Maria
GAPO syndrome ORPHA:2067
Dr CASTEL Marion ERN-Skin IgA pemphigus ORPHA:555905
Herpetiform pemphigus ORPHA:208524
Pemphigus foliaceus ORPHA:79481
Superficial pemphigus ORPHA:46485
Dermatitis herpetiformis ORPHA:1656
Pemphigus erythematosus ORPHA:79480
Bullous pemphigoid ORPHA:703
Paraneoplastic pemphigus ORPHA:63455
Anti-p200 pemphigoid ORPHA:454710
Pemphigoid gestationis ORPHA:63275
Linear IgA dermatosis ORPHA:46488
Dr CASTELLANOS Mario Pudendal neuralgia ORPHA:60039
Dr CATOIRE Pierre Duchenne muscular dystrophy ORPHA:98896
Dr CAVIRANI Benedetta ITHACA Basel-Vanagaite-Smirin-Yosef syndrome ORPHA:464738
Pr CHABROL Brigitte Duchenne muscular dystrophy ORPHA:98896
Dr CHAIBA Djamila Behçet disease ORPHA:117
Pr CHANSON Philippe Non-functioning pituitary adenoma ORPHA:91349
Pr CHAPURLAT Roland Fibrous dysplasia of bone ORPHA:249
Dr CHARLES Perrine Spinocerebellar ataxia with axonal neuropathy ORPHA:64753
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Expert ERN Affiliation
Disease name ORPHAcode
type 2
Ataxia-oculomotor apraxia type 1 ORPHA:1168
Pr CHARRON Philippe Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ORPHA:300751
Familial isolated dilated cardiomyopathy ORPHA:154
Familial isolated restrictive cardiomyopathy ORPHA:75249
Dr CHAUVIN Antony Behçet disease ORPHA:117
Langerhans cell histiocytosis ORPHA:389
Hypophosphatasia ORPHA:436
Maple syrup urine disease ORPHA:511
Rett syndrome ORPHA:778
Sarcoidosis ORPHA:797
Susac syndrome ORPHA:838
Common variable immunodeficiency ORPHA:1572
Congenital diaphragmatic hernia ORPHA:2140
Lennox-Gastaut syndrome ORPHA:2382
West syndrome ORPHA:3451
Gaucher disease type 3 ORPHA:77261
Mastocytosis ORPHA:98292
Duchenne muscular dystrophy ORPHA:98896
Pulmonary arterial hypertension ORPHA:182090
Dr CHONG Kim Monosomy 5p ORPHA:281
Pr CIMAZ Rolando Kawasaki disease ORPHA:2331
Pr CLARET Pierre-Gérault Langerhans cell histiocytosis ORPHA:389
Hypophosphatasia ORPHA:436
Maple syrup urine disease ORPHA:511
Rett syndrome ORPHA:778
Common variable immunodeficiency ORPHA:1572
Pulmonary arterial hypertension ORPHA:182090
Pr CLAYTON-SMITH Jill ITHACA 3M syndrome ORPHA:2616
Dr CODY Jannine Tetrasomy 18p ORPHA:3307
Distal trisomy 18q ORPHA:1716
Monosomy 18q ORPHA:1600
Dr COIGNARD Hélène Mastocytosis ORPHA:98292
Dr COLLET Corinne ITHACA Summitt syndrome ORPHA:3210
Goodman syndrome ORPHA:65798
Carpenter syndrome ORPHA:65759
Treacher-Collins syndrome ORPHA:861
Dr COLLINS Michael Fibrous dysplasia of bone ORPHA:249
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Expert ERN Affiliation
Disease name ORPHAcode
Pr COLOMBI Marina Classical Ehlers-Danlos syndrome ORPHA:287
Dr CONTRO Gianluca B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:75496
Pr COPPO Paul ERKNet Thrombotic thrombocytopenic purpura ORPHA:54057
Congenital thrombotic thrombocytopenic purpura
ORPHA:93583
Immune-mediated thrombotic thrombocytopenic purpura
ORPHA:93585
Dr COPPOLA Antonietta Benign adult familial myoclonic epilepsy ORPHA:86814
Pr CORMIER-DAIRE Valerie Weill-Marchesani syndrome ORPHA:3449
Marshall-Smith syndrome ORPHA:561
Malan overgrowth syndrome ORPHA:420179
Dr CORNU Erika Pheochromocytoma-paraganglioma ORPHA:573163
Non-functioning paraganglioma ORPHA:94080
Sporadic pheochromocytoma/secreting paraganglioma
ORPHA:276621
OBSOLETE: Catecholamine-producing tumor ORPHA:717
Pheochromocytoma-paraganglioma ORPHA:573163
Dr CORTON PÉREZ Marta X-linked retinoschisis ORPHA:792
Dr COTTIN Vincent Bronchiolitis obliterans with obstructive pulmonary disease
ORPHA:1303
Dr CRISTOFERI Laura Primary biliary cholangitis ORPHA:186
Pr CRUTCH Sebastian Posterior cortical atrophy ORPHA:54247
Dr CUNNINGHAM Michael Saethre-Chotzen syndrome ORPHA:794
Pr CZAUDERNA Piotr Hepatoblastoma ORPHA:449
Dr DALY Adrian Prolactinoma ORPHA:2965
Pituitary gigantism ORPHA:99725
Dr D'AMICO Adele X-linked centronuclear myopathy ORPHA:596
Centronuclear myopathy ORPHA:595
Autosomal recessive centronuclear myopathy ORPHA:169186
Autosomal dominant centronuclear myopathy ORPHA:169189
Pr DAUVILLIERS Yves Familial advanced sleep-phase syndrome ORPHA:164736
Narcolepsy type 2 ORPHA:83465
Narcolepsy type 1 ORPHA:2073
Idiopathic hypersomnia ORPHA:33208
Non-24-hour sleep-wake syndrome ORPHA:73267
Dr DAVID Clémence Susac syndrome ORPHA:838
Pr DE LONLAY Pascale Maple syrup urine disease ORPHA:511
Pr DE PONTUAL Loic ITHACA Feingold syndrome ORPHA:1305
Pr DE BAERE Elfride Blepharophimosis-ptosis-epicanthus inversus syndrome
ORPHA:126
Dr DE BROUWER Arjan Phosphoribosylpyrophosphate synthetase ORPHA:3222
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Expert ERN Affiliation
Disease name ORPHAcode
superactivity
Mild phosphoribosylpyrophosphate synthetase superactivity
ORPHA:411536
Severe phosphoribosylpyrophosphate synthetase superactivity
ORPHA:411543
Pr DE PONTUAL Loïc ITHACA Feingold syndrome type 1 ORPHA:391641
Feingold syndrome type 2 ORPHA:391646
Dr DEBIEC Hanna Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
ORPHA:69063
DEL POZO VALERO Marta X-linked retinoschisis ORPHA:792
Pr DELAPORTE Emmanuel Sweet syndrome ORPHA:3243
Pr DES PORTES Vincent Fragile X syndrome ORPHA:908
Pr DESGUERRE Isabelle Duchenne muscular dystrophy ORPHA:98896
Dr DESLANDRE Chantal Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
ORPHA:85408
Oligoarticular juvenile idiopathic arthritis ORPHA:85410
Systemic-onset juvenile idiopathic arthritis ORPHA:85414
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
ORPHA:85435
Psoriasis-related juvenile idiopathic arthritis ORPHA:85436
Enthesitis-related juvenile idiopathic arthritis ORPHA:85438
Dr DHOOGE Patty Stargardt disease ORPHA:827
Pr DI FILIPPO Sylvie Supravalvular aortic stenosis ORPHA:3193
Dr DIGILIO Maria Cristina ITHACA Noonan syndrome with multiple lentigines ORPHA:500
Dr DIVIZIA Maria Teresa Poland syndrome ORPHA:2911
Pr DOCO-FENZY Martine 2q37 microdeletion syndrome ORPHA:1001
Pr DOLLFUS Hélène Multiple syringomas ORPHA:99156
Dr DONADIEU Jean Langerhans cell histiocytosis ORPHA:389
Dr DÖRR Jan-Markus Susac syndrome ORPHA:838
Dr DOUAY Bénédicte Common variable immunodeficiency ORPHA:1572
Susac syndrome ORPHA:838
Dr DREISLER Eva Asherman syndrome ORPHA:137686
Dr DUBOURG Christèle Holoprosencephaly ORPHA:2162
Pr EDERY Patrick ITHACA Microcephalic osteodysplastic primordial dwarfism types I and III
ORPHA:2636
Dr EL GHOUZZI Vincent ITHACA Dyggve-Melchior-Clausen disease ORPHA:239
Pr ENG Charis Cowden syndrome ORPHA:201
Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
Dr ENGLE Elizabeth Duane retraction syndrome ORPHA:233
Pr ENK Claes Solar urticaria ORPHA:97230
Pr FARR Sebastian Ulnar hemimelia ORPHA:93320
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Expert ERN Affiliation
Disease name ORPHAcode
Radial hemimelia ORPHA:93321
Tibial hemimelia ORPHA:93322
Fibular hemimelia ORPHA:93323
Dr FASSIHI Hiva Xeroderma pigmentosum variant ORPHA:90342
Pr FATTORI Fabiana X-linked centronuclear myopathy ORPHA:596
Centronuclear myopathy ORPHA:595
Autosomal recessive centronuclear myopathy ORPHA:169186
Autosomal dominant centronuclear myopathy ORPHA:169189
Pr FELLMAN Vineta GRACILE syndrome ORPHA:53693
Dr FENOGLIO Roberta ERKNet Pauci-immune glomerulonephritis ORPHA:93126
Pr FERRI Clodoveo Mixed cryoglobulinemia type II ORPHA:93554
Mixed cryoglobulinemia type III ORPHA:93555
Cryoglobulinemic vasculitis ORPHA:91138
Pr FIESCHI Claire Common variable immunodeficiency ORPHA:1572
Dr FISCHLER Björn ERN RARE-LIVER
Isolated biliary atresia ORPHA:30391
Pr FONTAINE Bertrand Schwartz-Jampel syndrome ORPHA:800
Dr FRANK Michael Vascular Ehlers-Danlos syndrome ORPHA:286
Dr FUJIOKA Shinsuke Spinocerebellar ataxia type 34 ORPHA:1955
Spinocerebellar ataxia type 30 ORPHA:211017
Spinocerebellar ataxia type 6 ORPHA:98758
Spinocerebellar ataxia type 37 ORPHA:363710
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ORPHA:314404
Spinocerebellar ataxia type 7 ORPHA:94147
Spinocerebellar ataxia type 5 ORPHA:98766
Spinocerebellar ataxia type 29 ORPHA:208513
Spinocerebellar ataxia type 31 ORPHA:217012
Spinocerebellar ataxia type 35 ORPHA:276193
Spinocerebellar ataxia type 32 ORPHA:276183
Spinocerebellar ataxia type 36 ORPHA:276198
Pr FUKAO Toshiyuki Beta-ketothiolase deficiency ORPHA:134
Succinyl-CoA:3-oxoacid CoA transferase deficiency
ORPHA:832
Dr GALEOTTI Caroline Kawasaki disease ORPHA:2331
Dr GARAVELLI Livia ITHACA Spondylodysplastic Ehlers-Danlos syndrome ORPHA:536471
Basel-Vanagaite-Smirin-Yosef syndrome ORPHA:464738
Distal arthrogryposis type 1 ORPHA:1146
Mowat-Wilson syndrome ORPHA:2152
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:157965
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Expert ERN Affiliation
Disease name ORPHAcode
Megalencephaly-capillary malformation-polymicrogyria syndrome
ORPHA:60040
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:75496
Alazami syndrome ORPHA:319671
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:536467
Dr GARG Abhimanyu CANDLE syndrome ORPHA:325004
JMP syndrome ORPHA:324999
Nakajo-Nishimura syndrome ORPHA:2615
Proteasome-associated autoinflammatory syndrome
ORPHA:324977
Proteasome-associated autoinflammatory syndrome
ORPHA:324977
Dr GATTORNO Marco NLRC4-related familial cold autoinflammatory syndrome
ORPHA:576349
CINCA syndrome ORPHA:1451
Pr GENEVIEVE David ITHACA Kabuki syndrome ORPHA:2322
Pr GENNERY Andrew Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
ORPHA:37042
Pr GERMAIN Dominique Pseudoxanthoma elasticum ORPHA:758
Dr GERUSSI Alessio Primary biliary cholangitis ORPHA:186
Dr GHOUMID Jamal ITHACA Blepharo-cheilo-odontic syndrome ORPHA:1997
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
ORPHA:369891
Dr GIANI Teresa Kawasaki disease ORPHA:2331
Pr GIDEON Koren Fetal valproate spectrum disorder ORPHA:1906
Pr GIMENEZ ROQUEPLO Anne-Paule
Pheochromocytoma-paraganglioma ORPHA:573163
Non-functioning paraganglioma ORPHA:94080
Sporadic pheochromocytoma/secreting paraganglioma
ORPHA:276621
OBSOLETE: Catecholamine-producing tumor ORPHA:717
Pheochromocytoma-paraganglioma ORPHA:573163
Dr GIOVANNI Mosiello eUROGEN Prune belly syndrome ORPHA:2970
Dr GIUNTA Cecilia Arthrochalasia Ehlers-Danlos syndrome ORPHA:1899
Dr GIUSTI Francesca Multiple endocrine neoplasia type 2 ORPHA:653
Multiple endocrine neoplasia type 1 ORPHA:652
Dr GLOAGUEN Aurélie Sarcoidosis ORPHA:797
Dr GODDET Nathalie Sybille Rett syndrome ORPHA:778
Pr GODEAU Bertrand Immune thrombocytopenia ORPHA:3002
Pr GOLFIER Francois Gestational trophoblastic neoplasm ORPHA:59305
Hydatidiform mole ORPHA:99927
Pr GOLONI-BERTOLLO Eny GAPO syndrome ORPHA:2067
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Expert ERN Affiliation
Disease name ORPHAcode
Maria
Pr GOUDEMAND Jenny Congenital factor II deficiency ORPHA:325
Combined deficiency of factor V and factor VIII ORPHA:35909
Congenital factor X deficiency ORPHA:328
Von Willebrand disease ORPHA:903
Von Willebrand disease type 1 ORPHA:166078
Congenital factor XI deficiency ORPHA:329
Dr GREENBERG Benjamin Acute disseminated encephalomyelitis ORPHA:83597
Dr GREIG Aina Pfeiffer syndrome type 1 ORPHA:93258
Dr GRELET Maude SATB2-associated syndrome ORPHA:576278
Dr GREVER Michael Classic hairy cell leukemia ORPHA:58017
Hairy cell leukemia variant ORPHA:300878
Dr GRIESE Matthias Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
ORPHA:572428
Hereditary pulmonary alveolar proteinosis ORPHA:264675
Pr GRIFFITHS Paul Schizencephaly ORPHA:799
Pr GROOTHOFF J.W. [Jaap] ERKNet Primary hyperoxaluria ORPHA:416
Pr GROSSFELD Paul Jacobsen syndrome ORPHA:2308
Pr GRUNEBAUM Eyal Purine nucleoside phosphorylase deficiency ORPHA:760
Pr GUERRINI Renzo Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
ORPHA:163727
Pr HACHULLA Eric CREST syndrome ORPHA:90290
Pr HAGERMAN Randi Fragile X syndrome ORPHA:908
Fragile X-associated tremor/ataxia syndrome ORPHA:93256
Fragile X syndrome ORPHA:908
Dr HAMEL Valérie Langerhans cell histiocytosis ORPHA:389
Dr HAMM Austin Pfeiffer syndrome type 1 ORPHA:93258
Dr HANSSON Emma Adiposis dolorosa ORPHA:36397
Dr HAYASHI Masahiro Oculocutaneous albinism type 6 ORPHA:370097
Oculocutaneous albinism type 5 ORPHA:370091
Oculocutaneous albinism type 7 ORPHA:352745
Temperature-sensitive oculocutaneous albinism type 1
ORPHA:352737
Minimal pigment oculocutaneous albinism type 1 ORPHA:352734
Oculocutaneous albinism type 1 ORPHA:352731
Oculocutaneous albinism ORPHA:55
Oculocutaneous albinism type 1A ORPHA:79431
Oculocutaneous albinism type 2 ORPHA:79432
Oculocutaneous albinism type 3 ORPHA:79433
Oculocutaneous albinism type 1B ORPHA:79434
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Expert ERN Affiliation
Disease name ORPHAcode
Oculocutaneous albinism type 4 ORPHA:79435
Dr HEATH Karen OBSOLETE: Madelung deformity ORPHA:35688
OBSOLETE: Madelung deformity ORPHA:35688
LÚri-Weill dyschondrosteosis ORPHA:240
Langer mesomelic dysplasia ORPHA:2632
Hypochondroplasia ORPHA:429
Rhizomelic chondrodysplasia punctata ORPHA:177
Dr HEIDET Laurence ERKNet Galloway-Mowat syndrome ORPHA:2065
Alport syndrome ORPHA:63
Dr HEIDET Laurence ERKNet X-linked Alport syndrome-diffuse leiomyomatosis ORPHA:1018
Dr HEIKE Carrie Otomandibular syndrome ORPHA:141136
Goldenhar syndrome ORPHA:374
Oculo-auriculo-vertebral spectrum ORPHA:141132
Pr HENNEKAM R.C. [Raoul] ITHACA Hennekam syndrome ORPHA:2136
Pitt-Hopkins syndrome ORPHA:2896
Pr HERMINE Olivier Mastocytosis ORPHA:98292
Dr HILGER Alina Atresia of urethra ORPHA:105
Dr HOLLAND Steven Chronic granulomatous disease ORPHA:379
Dr HONJO KAWAHIRA Rachel Monosomy 5p ORPHA:281
Pr HOPPE Bernd ERKNet Primary hyperoxaluria type 1 ORPHA:93598
Primary hyperoxaluria type 2 ORPHA:93599
Primary hyperoxaluria ORPHA:416
Pr HOUYEL Lucile Complete atrioventricular septal defect ORPHA:1329
Partial atrioventricular septal defect ORPHA:1330
Intermediate atrioventricular septal defect ORPHA:576242
Complete atrioventricular septal defect ORPHA:1329
Atrioventricular septal defect ORPHA:98722
Partial atrioventricular septal defect ORPHA:1330
Complete atrioventricular septal defect ORPHA:1329
Interatrial communication ORPHA:1478
Pr HOYNG Carel Stargardt disease ORPHA:827
Dr HOYTEMA VAN KONIJNENBURG Eva
Riboflavin transporter deficiency ORPHA:97229
Dr INNES A.Micheil Bowen-Conradi syndrome ORPHA:1270
Pr INVERNIZZI Pietro ERN RARE-LIVER
Primary biliary cholangitis ORPHA:186
Dr JAEGER Bregje Riboflavin transporter deficiency ORPHA:97229
Dr JANECKE Andreas Congenital sodium diarrhea ORPHA:103908
Dr JAROUSSIE Marianne Maple syrup urine disease ORPHA:511
Dr JENY Florence Sarcoidosis ORPHA:797
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
14
Expert ERN Affiliation
Disease name ORPHAcode
Sarcoidosis ORPHA:797
Dr JOKELA Manu Lower motor neuron syndrome with late-adult onset
ORPHA:276435
Pr JOLY Pascal ERN-Skin IgA pemphigus ORPHA:555905
Herpetiform pemphigus ORPHA:208524
Pemphigus foliaceus ORPHA:79481
Superficial pemphigus ORPHA:46485
Dermatitis herpetiformis ORPHA:1656
Pemphigus erythematosus ORPHA:79480
Bullous pemphigoid ORPHA:703
Paraneoplastic pemphigus ORPHA:63455
Linear IgA dermatosis ORPHA:46488
Pemphigoid gestationis ORPHA:63275
Anti-p200 pemphigoid ORPHA:454710
Pr JONDEAU Guillaume OBSOLETE: Aneurysm or dilatation of ascending aorta
ORPHA:95484
Dr JUNGK Christine Meningioma ORPHA:2495
Dr KAMIHARA Junne Li-Fraumeni syndrome ORPHA:524
Dr KANAZAWA Nobuo CANDLE syndrome ORPHA:325004
JMP syndrome ORPHA:324999
Nakajo-Nishimura syndrome ORPHA:2615
Proteasome-associated autoinflammatory syndrome
ORPHA:324977
Pr KANITAKIS Jean Disseminated superficial actinic porokeratosis ORPHA:79152
Porokeratosis of Mibelli ORPHA:735
Porokeratosis plantaris palmaris et disseminata ORPHA:737
Pr KAVAMURA Maria Ines Cardiofaciocutaneous syndrome ORPHA:1340
Pr KAZUMOTO Iijima Pierson syndrome ORPHA:2670
Pr KEIJZER Richard Congenital diaphragmatic hernia ORPHA:2140
Pr KERBAUL François Behçet disease ORPHA:117
Langerhans cell histiocytosis ORPHA:389
Hypophosphatasia ORPHA:436
Maple syrup urine disease ORPHA:511
Rett syndrome ORPHA:778
Sarcoidosis ORPHA:797
Susac syndrome ORPHA:838
Common variable immunodeficiency ORPHA:1572
Congenital diaphragmatic hernia ORPHA:2140
Lennox-Gastaut syndrome ORPHA:2382
West syndrome ORPHA:3451
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
15
Expert ERN Affiliation
Disease name ORPHAcode
Gaucher disease type 3 ORPHA:77261
Mastocytosis ORPHA:98292
Duchenne muscular dystrophy ORPHA:98896
Pulmonary arterial hypertension ORPHA:182090
Pr KLEEFSTRA Tjitske ITHACA Witteveen-Kolk syndrome ORPHA:500163
Dr KOHL Stefan ERKNet Renal hypoplasia ORPHA:93101
Renal dysplasia ORPHA:93108
Renal agenesis ORPHA:411709
Pr KOHLSCHÜTTER Alfried Juvenile neuronal ceroid lipofuscinosis ORPHA:79264
Pr KONE-PAUT Isabelle Kawasaki disease ORPHA:2331
Dr KÖNIG Jens ERKNet Senior-Loken syndrome ORPHA:3156
Pr KONRAD Martin ERKNet Transient pseudohypoaldosteronism ORPHA:93164
Dr KOPACOVA Marcela Blue rubber bleb nevus ORPHA:1059
Dr KUSEYRI HÜBSCHMANN Oya
Aromatic L-amino acid decarboxylase deficiency ORPHA:35708
Pr LACOUR-GAYET François Double outlet right ventricle ORPHA:3426
Pr LAPUNZINA Pablo ITHACA Multiple congenital anomalies-hypotonia-seizures syndrome type 2
ORPHA:300496
Simpson-Golabi-Behmel syndrome ORPHA:373
Dr LATOURTE Augustin Familial calcium pyrophosphate deposition ORPHA:1416
Dr LAVILLAUREIX Alinoë Holoprosencephaly ORPHA:2162
Dr LEBLANC Thierry ITHACA Fanconi anemia ORPHA:84
Pr LECONTE Philippe Maple syrup urine disease ORPHA:511
Dr LEEHEY Maureen Fragile X-associated tremor/ataxia syndrome ORPHA:93256
Pr LENNON Rachel ERKNet Alport syndrome ORPHA:63
X-linked Alport syndrome-diffuse leiomyomatosis ORPHA:1018
Dr LERONE Margherita Poland syndrome ORPHA:2911
Dr LEROY Christophe Behçet disease ORPHA:117
Langerhans cell histiocytosis ORPHA:389
Hypophosphatasia ORPHA:436
Maple syrup urine disease ORPHA:511
Rett syndrome ORPHA:778
Sarcoidosis ORPHA:797
Susac syndrome ORPHA:838
Common variable immunodeficiency ORPHA:1572
Congenital diaphragmatic hernia ORPHA:2140
Lennox-Gastaut syndrome ORPHA:2382
West syndrome ORPHA:3451
Gaucher disease type 3 ORPHA:77261
Mastocytosis ORPHA:98292
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
16
Expert ERN Affiliation
Disease name ORPHAcode
Duchenne muscular dystrophy ORPHA:98896
Pulmonary arterial hypertension ORPHA:182090
Dr LEVESQUE Amélie Pudendal neuralgia ORPHA:60039
Dr LEVI Assi Solar urticaria ORPHA:97230
Pr LEVTCHENKO Elena ERKNet Cystinosis ORPHA:213
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
ORPHA:244305
Pr LI Jun Hereditary neuropathy with liability to pressure palsies
ORPHA:640
Dr LIEBAU Max ERKNet Fraser syndrome ORPHA:2052
Galloway-Mowat syndrome ORPHA:2065
Atresia of urethra ORPHA:105
Renal dysplasia ORPHA:93108
Renal agenesis ORPHA:411709
Renal hypoplasia ORPHA:93101
Pr LINGLART Agnès Hypophosphatasia ORPHA:436
Dr LIOU Theodore Cystic fibrosis ORPHA:586
Pr LIPSKA-ZIETKIEWICZ Beata S.
Frasier syndrome ORPHA:347
Dr Lívia GALBIATTI-DIAS Ana GAPO syndrome ORPHA:2067
Pr LORTHOLARY Olivier Mastocytosis ORPHA:98292
Dr LUCENDO Alfredo Eosinophilic esophagitis ORPHA:73247
Pr Luisa BRANDI Maria Multiple endocrine neoplasia type 2 ORPHA:653
Multiple endocrine neoplasia type 1 ORPHA:652
Dr LUQUETTI Daniela Otomandibular syndrome ORPHA:141136
Goldenhar syndrome ORPHA:374
Oculo-auriculo-vertebral spectrum ORPHA:141132
Dr MAKI Robert Dedifferentiated liposarcoma ORPHA:99970
Dr MALAN Valérie ITHACA Marshall-Smith syndrome ORPHA:561
Malan overgrowth syndrome ORPHA:420179
Dr MALCHOFF Carl Differentiated thyroid carcinoma ORPHA:146
Dr MALTRET Alice Histiocytoid cardiomyopathy ORPHA:137675
Pr MANIÈRE Marie-Cécile Hypophosphatasia ORPHA:436
Dr MARCIANO Emmanuel Congenital glaucoma ORPHA:98976
Dr MARINI Francesca Multiple endocrine neoplasia type 2 ORPHA:653
Multiple endocrine neoplasia type 1 ORPHA:652
Pr Martin DAS Anibh Congenital sucrase-isomaltase deficiency ORPHA:35122
Dr MARTINACHE Isabelle Behçet disease ORPHA:117
Hypophosphatasia ORPHA:436
Rett syndrome ORPHA:778
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
17
Expert ERN Affiliation
Disease name ORPHAcode
Susac syndrome ORPHA:838
Dr MARTINEZ Mikaël West syndrome ORPHA:3451
Dr MATSUMOTO Hideki Succinyl-CoA:3-oxoacid CoA transferase deficiency
ORPHA:832
Dr MAZZANTI Andrea Brugada syndrome ORPHA:130
Pr MAZZANTI Laura ITHACA Noonan syndrome-like disorder with loose anagen hair
ORPHA:2701
Dr MECKERT Francine Behçet disease ORPHA:117
Langerhans cell histiocytosis ORPHA:389
Hypophosphatasia ORPHA:436
Maple syrup urine disease ORPHA:511
Rett syndrome ORPHA:778
Sarcoidosis ORPHA:797
Susac syndrome ORPHA:838
Common variable immunodeficiency ORPHA:1572
Congenital diaphragmatic hernia ORPHA:2140
Lennox-Gastaut syndrome ORPHA:2382
West syndrome ORPHA:3451
Gaucher disease type 3 ORPHA:77261
Mastocytosis ORPHA:98292
Duchenne muscular dystrophy ORPHA:98896
Pulmonary arterial hypertension ORPHA:182090
Pr MEKAHLI Djalila ITHACA Autosomal dominant polycystic kidney disease ORPHA:730
Dr MENEGHESSO Davide ERKNet Infantile nephronophthisis ORPHA:93591
Pr MEOLA Giovanni Steinert myotonic dystrophy ORPHA:273
Proximal myotonic myopathy ORPHA:606
Dr MERCIER Sandra Alobar holoprosencephaly ORPHA:93925
Dr MERCIER Marie-France Behçet disease ORPHA:117
Langerhans cell histiocytosis ORPHA:389
Hypophosphatasia ORPHA:436
Maple syrup urine disease ORPHA:511
Rett syndrome ORPHA:778
Common variable immunodeficiency ORPHA:1572
Dr MESULAM Marek-Marsel Frontotemporal dementia, right temporal atrophy variant
ORPHA:293848
Pr MEUNIER Isabelle Usher syndrome type 3 ORPHA:231183
Usher syndrome type 2 ORPHA:231178
Usher syndrome type 1 ORPHA:231169
Usher syndrome ORPHA:886
Pr MILEA Dan Autosomal dominant optic atrophy plus syndrome
ORPHA:1215
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
18
Expert ERN Affiliation
Disease name ORPHAcode
Pr MILEA Dan Autosomal dominant optic atrophy, classic form ORPHA:98673
Dr MILLÁN SALVADOR José María
X-linked retinoschisis ORPHA:792
Pr MITANCHEZ Delphine Omphalocele ORPHA:660
Pr MOLINA-MOLINA María Idiopathic pulmonary fibrosis ORPHA:2032
Pr MONTINI Giovanni ERKNet Senior-Loken syndrome ORPHA:3156
Dr MOOSAJEE Mariya Congenital primary aphakia ORPHA:83461
Dr MORNET Etienne Perinatal lethal hypophosphatasia ORPHA:247623
Prenatal benign hypophosphatasia ORPHA:247638
Infantile hypophosphatasia ORPHA:247651
Childhood-onset hypophosphatasia ORPHA:247667
Adult hypophosphatasia ORPHA:247676
Odontohypophosphatasia ORPHA:247685
Hypophosphatasia ORPHA:436
Dr MORROW Eric Christianson syndrome ORPHA:85278
Pr MÜLLER Thomas Congenital sodium diarrhea ORPHA:103908
Dr MUR Sébastien Congenital diaphragmatic hernia ORPHA:2140
Dr MURAWSKI Maciej Hepatoblastoma ORPHA:449
Dr MURER Luisa ERKNet Nephronophthisis ORPHA:655
Infantile nephronophthisis ORPHA:93591
Dr MUSSA Alessandro ITHACA Sotos syndrome ORPHA:821
Pr NABBOUT Rima Lennox-Gastaut syndrome ORPHA:2382
West syndrome ORPHA:3451
Dr NEGRISOLO Susanna ERKNet Nephronophthisis ORPHA:655
Infantile nephronophthisis ORPHA:93591
Dr NESTI Claudia NARP syndrome ORPHA:644
Dr NICO Marcello Cheilitis glandularis ORPHA:1221
Cheilitis glandularis ORPHA:1221
Pr NORDENSKJÖLD Agneta 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
ORPHA:753
Posterior hypospadias ORPHA:95706
Pr NOZU Kandai Pierson syndrome ORPHA:2670
Pr NUNES Hilario Sarcoidosis ORPHA:797
Dr OBERLIN Mathieu Gaucher disease type 3 ORPHA:77261
Pr ODENT Sylvie ITHACA Alobar holoprosencephaly ORPHA:93925
Alobar holoprosencephaly ORPHA:93925
Lobar holoprosencephaly ORPHA:93924
Semilobar holoprosencephaly ORPHA:220386
Microform holoprosencephaly ORPHA:280200
Septopreoptic holoprosencephaly ORPHA:280195
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
19
Expert ERN Affiliation
Disease name ORPHAcode
Holoprosencephaly ORPHA:2162
Pr OLIVIER-FAIVRE Laurence ITHACA Nasopalpebral lipoma-coloboma syndrome ORPHA:2399
White-Sutton syndrome ORPHA:468678
Tall stature-intellectual disability-renal anomalies syndrome
ORPHA:500095
Pr OPLADEN Thomas Aromatic L-amino acid decarboxylase deficiency ORPHA:35708
Pr ORNOY Asher Fetal valproate spectrum disorder ORPHA:1906
Dr ORO Saskia Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
ORPHA:95455
Dr ORSUCCI Daniele Familial paroxysmal ataxia ORPHA:97
Dr PAISAN-RUIZ Coro Young-onset Parkinson disease ORPHA:2828
Pr PAPO Thomas Susac syndrome ORPHA:838
Dr PAVARINO Érika Cristina GAPO syndrome ORPHA:2067
Dr PELLISE Maria Serrated polyposis syndrome ORPHA:157798
Dr PERRI Annamaria Noonan syndrome-like disorder with loose anagen hair
ORPHA:2701
Dr PERRIN Laurence ITHACA Smith-Magenis syndrome ORPHA:819
Pr PESCHANSKI Nicolas Lennox-Gastaut syndrome ORPHA:2382
Pr PETERSEN Claus ERN RARE-LIVER
Isolated biliary atresia ORPHA:30391
Pr PETIT Florence ITHACA Blepharo-cheilo-odontic syndrome ORPHA:1997
Pr PHILIP Nicole ITHACA SATB2-associated syndrome ORPHA:576278
22q11.2 deletion syndrome ORPHA:567
22q11.2 duplication syndrome ORPHA:1727
KBG syndrome ORPHA:2332
Dr PICCOLO Gianluca ITHACA Freeman-Sheldon syndrome ORPHA:2053
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
ORPHA:363444
Dr PICHARD Samia Gaucher disease type 3 ORPHA:77261
Dr PILLEBOUT Evangeline Immunoglobulin A vasculitis ORPHA:761
Dr POLLAZZON Marzia ITHACA Distal arthrogryposis type 1 ORPHA:1146
Dr PONDARRE Corinne Hemoglobin H disease ORPHA:93616
Dr POWELL Cynthia Townes-Brocks syndrome ORPHA:857
Pr PRIORI Silvia Brugada syndrome ORPHA:130
Dr PUECHAL Xavier Cutaneous small vessel vasculitis ORPHA:889
Eosinophilic granulomatosis with polyangiitis ORPHA:183
Microscopic polyangiitis ORPHA:727
Polyarteritis nodosa ORPHA:767
Primary angiitis of the central nervous system ORPHA:140989
Dr PUJALTE Mathilde ITHACA Distal Xq28 microduplication syndrome ORPHA:293939
Dr PULA Shpresa Duchenne muscular dystrophy ORPHA:98896
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
20
Expert ERN Affiliation
Disease name ORPHAcode
Duchenne and Becker muscular dystrophy ORPHA:262
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
ORPHA:206546
Becker muscular dystrophy ORPHA:98895
Dr PULITI Aldamaria Poland syndrome ORPHA:2911
Dr PUTOUX Audrey Microcephalic osteodysplastic primordial dwarfism types I and III
ORPHA:2636
Pr QUIJANO-ROY Susana Congenital muscular dystrophy due to LMNA mutation
ORPHA:157973
Pr QUINLIVAN Rosaline Duchenne muscular dystrophy ORPHA:98896
Duchenne and Becker muscular dystrophy ORPHA:262
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
ORPHA:206546
Becker muscular dystrophy ORPHA:98895
Pr RADLER Christof Ulnar hemimelia ORPHA:93320
Radial hemimelia ORPHA:93321
Tibial hemimelia ORPHA:93322
Fibular hemimelia ORPHA:93323
Pr RAHMAN Shamima WARS2-related combined oxidative phosphorylation defect
ORPHA:572798
Dr RAJAN Neil Brooke-Spiegler syndrome ORPHA:79493
Dr RAMOND Francis AICA-ribosiduria ORPHA:250977
Pr RAWASHDEH Yazan eUROGEN Posterior urethral valve ORPHA:93110
Anterior urethral valve ORPHA:435372
Dr REPKA Michael Retinopathy of prematurity ORPHA:90050
Pr REYNIER Pascal Autosomal dominant optic atrophy plus syndrome
ORPHA:1215
Autosomal dominant optic atrophy, classic form ORPHA:98673
Dr RHYS Evans ERKNet IgG4-related kidney disease ORPHA:449395
Dr RIBRAG Vincent Mantle cell lymphoma ORPHA:52416
MALT lymphoma ORPHA:52417
Follicular lymphoma ORPHA:545
Dr RICCARDI Florence ITHACA KBG syndrome ORPHA:2332
Pr RICHETTE Pascal Familial calcium pyrophosphate deposition ORPHA:1416
Dr RIEGER Melissa ITHACA Childhood apraxia of speech ORPHA:209908
Dr ROBAK Tadeusz Classic hairy cell leukemia ORPHA:58017
Dr ROMANINI Maria Victoria Poland syndrome ORPHA:2911
Pr ROCCATELLO Dario ERKNet Anti-glomerular basement membrane disease ORPHA:375
Pauci-immune glomerulonephritis ORPHA:93126
Pr RONCO Pierre ERKNet Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
ORPHA:69063
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
21
Expert ERN Affiliation
Disease name ORPHAcode
Dr ROSSIGNOL Julien Mastocytosis ORPHA:98292
Dr ROTHENBUHLER Anya Hypophosphatasia ORPHA:436
Dr ROUSSEAU Geoffroy Congenital diaphragmatic hernia ORPHA:2140
Dr ROUX Anne Françoise Usher syndrome type 3 ORPHA:231183
Usher syndrome type 2 ORPHA:231178
Usher syndrome type 1 ORPHA:231169
Usher syndrome ORPHA:886
Dr RUSHING Elisabeth Focal myositis ORPHA:48918
Pr RUTKOWSKI Stefan Medulloblastoma ORPHA:616
Pr SAADOUN David Behçet disease ORPHA:117
Hereditary pediatric Behþet-like disease ORPHA:476102
Pr SACCONI Sabrina EURO-NMD Facioscapulohumeral dystrophy ORPHA:269
Pr SACRE Karim Susac syndrome ORPHA:838
Dr SAHM Felix Meningioma ORPHA:2495
Dr SANCHEZ FERNAN Ivan Landau-Kleffner syndrome ORPHA:98818
Dr SANCHEZ FERNANDEZ Mayka
Congenital dyserythropoietic anemia type I ORPHA:98869
Dr SANGIORGI Luca Nail-patella syndrome ORPHA:2614
Pr SANLAVILLE Damien ITHACA Distal Xq28 microduplication syndrome ORPHA:293939
Pr SANTORELLI Filippo NARP syndrome ORPHA:644
SARKAR Hajrah Congenital primary aphakia ORPHA:83461
Dr SASAI Hideo Beta-ketothiolase deficiency ORPHA:134
Dr SAVALE Laurent Pulmonary arterial hypertension ORPHA:182090
Dr SCALA Marcello Freeman-Sheldon syndrome ORPHA:2053
Dr SCARANO Emanuela Noonan syndrome-like disorder with loose anagen hair
ORPHA:2701
Dr SCHLUTH-BOLARD Caroline ITHACA Distal Xq28 microduplication syndrome ORPHA:293939
SCHNEIDER Katherine Li-Fraumeni syndrome ORPHA:524
Dr SCHREUDER Michiel eUROGEN & ERKNet
Multicystic dysplastic kidney ORPHA:1851
Unilateral multicystic dysplastic kidney ORPHA:97363
Bilateral multicystic dysplastic kidney ORPHA:97364
Dr SCHUHMANN Sarah ITHACA CTCF-related neurodevelopmental disorder ORPHA:363611
Pr SCHUSTER Volker Ligneous conjunctivitis ORPHA:97231
Pr SCHWARTZ Peter Timothy syndrome ORPHA:65283
Romano-Ward syndrome ORPHA:101016
Jervell and Lange-Nielsen syndrome ORPHA:90647
Dr SENTARO Kusuhara Pierson syndrome ORPHA:2670
Dr SHERR Elliott Temtamy syndrome ORPHA:1777
Dr SILVE Caroline Acrodysostosis with multiple hormone resistance ORPHA:280651
Dr SMOL Thomas ITHACA Developmental delay-facial dysmorphism ORPHA:369891
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
22
Expert ERN Affiliation
Disease name ORPHAcode
syndrome due to MED13L deficiency
Dr SNAST Igor Solar urticaria ORPHA:97230
Dr SNEAD Martin Stickler syndrome ORPHA:828
Dr SOLDNER Roland Congenital diaphragmatic hernia ORPHA:2140
Pr STEINMANN Beat Arthrochalasia Ehlers-Danlos syndrome ORPHA:1899
Dr STRUB Marion Dental ankylosis ORPHA:1077
Pr STUMPEL C.T.R.M. [Connie] ITHACA L1 syndrome ORPHA:275543
Hydrocephalus with stenosis of the aqueduct of Sylvius
ORPHA:2182
MASA syndrome ORPHA:2466
X-linked complicated spastic paraplegia type 1 ORPHA:306617
X-linked complicated corpus callosum dysgenesis ORPHA:1497
Dr SUGARMAN Jeffrey Linear nevus sebaceus syndrome ORPHA:2612
Pr SUNADA Yoshihide MELAS ORPHA:550
Pr SUSEN Sophie Von Willebrand disease ORPHA:903
Von Willebrand disease type 1 ORPHA:166078
Dr SUZUKI Tamio Oculocutaneous albinism type 6 ORPHA:370097
Oculocutaneous albinism type 5 ORPHA:370091
Oculocutaneous albinism type 7 ORPHA:352745
Temperature-sensitive oculocutaneous albinism type 1
ORPHA:352737
Minimal pigment oculocutaneous albinism type 1 ORPHA:352734
Oculocutaneous albinism type 1 ORPHA:352731
Oculocutaneous albinism ORPHA:55
Oculocutaneous albinism type 1A ORPHA:79431
Oculocutaneous albinism type 2 ORPHA:79432
Oculocutaneous albinism type 3 ORPHA:79433
Oculocutaneous albinism type 1B ORPHA:79434
Oculocutaneous albinism type 4 ORPHA:79435
Dr SZAKSZON Katalin ITHACA Oculocerebrofacial syndrome, Kaufman type ORPHA:2707
Dr TAMBURRINO Federica Noonan syndrome-like disorder with loose anagen hair
ORPHA:2701
Pr TAZI Abdellatif Langerhans cell histiocytosis ORPHA:389
Dr TENORIO CASTAÑO Jair Antonio
Simpson-Golabi-Behmel syndrome ORPHA:373
Pr TERRIER Benjamin Cutaneous small vessel vasculitis ORPHA:889
Eosinophilic granulomatosis with polyangiitis ORPHA:183
Microscopic polyangiitis ORPHA:727
Polyarteritis nodosa ORPHA:767
Primary angiitis of the central nervous system ORPHA:140989
Dr TESTONI Alberto NON RARE IN EUROPE: Recurrent acute ORPHA:64740
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
23
Expert ERN Affiliation
Disease name ORPHAcode
pancreatitis
Dr TIMOTHY Katherine Timothy syndrome ORPHA:65283
Pr TOMATSU Shunji Mucopolysaccharidosis type 4 ORPHA:582
Dr TORRE Michele Poland syndrome ORPHA:2911
Dr TREMOLIERES François Tetanus ORPHA:3299
Dr TREPICCIONE Francesco ERKNet Fanconi-Bickel syndrome ORPHA:2088
Dr TRIMARCHI Gabriele ITHACA SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:157965
Dr TSENG MinHua ERKNet Transient pseudohypoaldosteronism ORPHA:93164
Dr TSUBOI Yoshio Spinocerebellar ataxia type 34 ORPHA:1955
Spinocerebellar ataxia type 30 ORPHA:211017
Spinocerebellar ataxia type 6 ORPHA:98758
Spinocerebellar ataxia type 37 ORPHA:363710
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ORPHA:314404
Spinocerebellar ataxia type 7 ORPHA:94147
Spinocerebellar ataxia type 5 ORPHA:98766
Spinocerebellar ataxia type 29 ORPHA:208513
Spinocerebellar ataxia type 31 ORPHA:217012
Spinocerebellar ataxia type 32 ORPHA:276183
Spinocerebellar ataxia type 35 ORPHA:276193
Spinocerebellar ataxia type 36 ORPHA:276198
Pr TÜMER Zeynep ITHACA Menkes disease ORPHA:565
Occipital horn syndrome ORPHA:198
Dr TURLEAU Catherine Cat-eye syndrome ORPHA:195
Pr VALENTE Enza Maria Joubert syndrome ORPHA:475
Dr VALENZUELA Irene ITHACA Short stature-brachydactyly-obesity-global developmental delay syndrome
ORPHA:464288
Cerebellar-facial-dental syndrome ORPHA:444072
Dr VAN DER SPEK Jet Witteveen-Kolk syndrome ORPHA:500163
Dr VAN EERDE A.M. [Albertien]
ERKNet Fraser syndrome ORPHA:2052
Dr VAN WIJK R. [Richard] Hemolytic anemia due to red cell pyruvate kinase deficiency
ORPHA:766
Dr VAULOUP-FELLOUS Christelle
Congenital rubella syndrome ORPHA:290
Congenital enterovirus infection ORPHA:292
Dr VAUX Julien Hypophosphatasia ORPHA:436
Dr VERDIN Hannah Blepharophimosis-ptosis-epicanthus inversus syndrome
ORPHA:126
Pr VERLOES Alain ITHACA & ERKNet
Neu-Laxova syndrome ORPHA:2671
Serine biosynthesis pathway deficiency, infantile/juvenile form
ORPHA:583595
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
24
Expert ERN Affiliation
Disease name ORPHAcode
Neurometabolic disorder due to serine deficiency ORPHA:35705
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
ORPHA:363972
Galloway-Mowat syndrome ORPHA:2065
Hypertelorism, Teebi type ORPHA:1519
Noonan syndrome ORPHA:648
Opitz G/BBB syndrome ORPHA:2745
Dr VICART Savine Hypokalemic periodic paralysis ORPHA:681
Pr VIGOUROUX Corinne Insulin-resistance syndrome type B ORPHA:2298
Congenital generalized lipodystrophy ORPHA:528
Familial partial lipodystrophy, Dunnigan type ORPHA:2348
Familial partial lipodystrophy ORPHA:98306
Pr VIKKULA Miikka Glomuvenous malformation ORPHA:83454
Dr VILAIN Catheline ITHACA Hartsfield syndrome ORPHA:2117
Dr VILARINHO Laura 3-hydroxy-3-methylglutaric aciduria ORPHA:20
Dr VIVARELLI Marina ERKNet Idiopathic steroid-sensitive nephrotic syndrome ORPHA:69061
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
ORPHA:69063
Dr VOCKLEY Gerard Isovaleric acidemia ORPHA:33
Pr VOCKLEY Jerry Isovaleric acidemia ORPHA:33
Dr VOS Y.J. [Yvonne] ITHACA Hydrocephalus with stenosis of the aqueduct of Sylvius
ORPHA:2182
MASA syndrome ORPHA:2466
X-linked complicated spastic paraplegia type 1 ORPHA:306617
X-linked complicated corpus callosum dysgenesis ORPHA:1497
L1 syndrome ORPHA:275543
Pr WALLON Martine Congenital toxoplasmosis ORPHA:858
Dr WANG Heng Cohen syndrome ORPHA:193
Pr WIECZOREK Dagmar ITHACA Postaxial acrofacial dysostosis ORPHA:246
Burn-McKeown syndrome ORPHA:1200
Mandibulofacial dysostosis-microcephaly syndrome
ORPHA:79113
Pr WIERSINGA W.J. [Joost] Melioidosis ORPHA:31202
Dr WIJSENBEEK M.S. [Marlies] Idiopathic pulmonary fibrosis ORPHA:2032
Dr WILKINSON Mark Stargardt disease ORPHA:827
Dr WOLF Barry Multiple carboxylase deficiency ORPHA:148
Biotinidase deficiency ORPHA:79241
Holocarboxylase synthetase deficiency ORPHA:79242
Dr WOLF Nicole 4H leukodystrophy ORPHA:289494
Dr WORTMANN-HAGEMANN 3-methylglutaconic aciduria type 1 ORPHA:67046
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Expert ERN Affiliation
Disease name ORPHAcode
Saskia
Pr WOUTERS Carine H. Blau syndrome ORPHA:90340
Dr WSZOLEK Zbigniew Spinocerebellar ataxia type 34 ORPHA:1955
Spinocerebellar ataxia type 30 ORPHA:211017
Spinocerebellar ataxia type 6 ORPHA:98758
Spinocerebellar ataxia type 37 ORPHA:363710
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ORPHA:314404
Spinocerebellar ataxia type 5 ORPHA:98766
Spinocerebellar ataxia type 29 ORPHA:208513
Spinocerebellar ataxia type 32 ORPHA:276183
Spinocerebellar ataxia type 35 ORPHA:276193
Spinocerebellar ataxia type 36 ORPHA:276198
Spinocerebellar ataxia type 31 ORPHA:217012
Spinocerebellar ataxia type 7 ORPHA:94147
Dr ZACCHIA Miriam ERKNet Hereditary renal hypouricemia ORPHA:94088
Dr ZANGEN David Congenital lipoid adrenal hyperplasia due to STAR deficency
ORPHA:90790
Pr ZWEIER Christiane CTCF-related neurodevelopmental disorder ORPHA:363611
Childhood apraxia of speech ORPHA:209908
List of expert networks reviewing Orphanet data in 2020
Name of expert network Disease name ORPHA code
EpiCARE FOXG1 syndrome ORPHA:561854
ERKNet Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
ORPHA:88660
ERN-Skin Inherited epidermolysis bullosa ORPHA:79361
List of abbreviations ERN : European Reference Network Endo-ERN: European Reference Network on endocrine conditions ERKNet: European Reference Network on kidney diseases ERN BOND: European Reference Network on bone disorders ERN CRANIO: European Reference Network on craniofacial anomalies and ENT disorders ERN EpiCARE: European Reference Network on epilepsies ERN EURACAN: European Reference Network on adult cancers (solid tumours) ERN EuroBloodNet: European Reference Network on haematological diseases ERN eUROGEN: European Reference Network on urogenital diseases and conditions
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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ERN EURO-NMD: European Reference Network on neuromuscular diseases ERN EYE: European Reference Network on eye diseases ERN GENTURIS: European Reference Network on genetic tumour risk syndromes ERN GUARD-HEART: European Reference Network on diseases of the heart ERNICA: European Reference Network on inherited and congenital anomalies ERN ITHACA: European Reference Network on congenital malformations and rare intellectual disability ERN LUNG: European Reference Network on respiratory diseases ERN PaedCan: European Reference Network on paediatric cancer (haemato-oncology) ERN RARE-LIVER: European Reference Network on hepatological diseases ERN ReCONNET: European Reference Network on connective tissue and musculoskeletal diseases ERN RITA: European Reference Network on immunodeficiency, autoinflammatory and autoimmune diseases ERN-RND: European Reference Network on neurological diseases ERN Skin: European Reference Network on skin disorders ERN TRANSPLANT-CHILD: European Reference Network on transplantation in children MetabERN: European Reference Network on hereditary metabolic disorders VASCERN: European Reference Network on multisystemic vascular diseases
For any questions or comments, please contact us: contact.orphanet@inserm.fr
Orphanet Report Series - Expert Reviewers for Orphanet in 2020 http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
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Editor-in-chief: Ana Rath – Editor of the report: Charlotte Rodwell
Contributing editors: Gemma Milman,
Annie Olry & Dam-Thi Tsuvaltsidis
The correct form when quoting this document is:
«Expert Reviewers for Orphanet in 2020 », Orphanet Report Series, March 2021
http://www.orpha.net/orphacom/cahiers/docs/GB/Expert_reviewers_2020.pdf
This Orphanet Report Series is part of the Direct Grant N°831390 which has received funding from the European Union’s Health Programme (2014-2020).
The content of this Orphanet Report Series represents the views of the author only and is his/her sole responsibility; it can not be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.
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